[Familial partial pyruvic dehydrogenase deficiency (author's transl)].
Pyruvic dehydrogenase deficiency was found in two living children of a Turkish family, whereas lactate acidosis was found in a dead child. Two further children died with a pattern of a therapy-refractory metabolic acidosis without any recognisable cause. The prerequisites for the creation of lactate acidosis are demonstrated by the example of pyruvic dehydrogenase deficiency. The extent of remaining activity in case of peruvic dehydrogenase deficiency determines the pattern of clinical signs and the course of the disease which can be influenced to a varying degree by additional complications and different attempts at treatment.
D000138:Acidosis / Q000175:diagnosis; D003241:Consanguinity; D006801:Humans; D007773:Lactates / Q000097:blood; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease
D007773:Lactates
Familiärer partieller Pyruvatdehydrogenase-Mangel.